| Citation: |
SHI Meipan, SHI Caiping, DU Chixin. Advances in the Diagnosis and Treatment for Ocular Complication on Mucopolysaccharidosis[J]. Journal of Rare Diseases, 2023, 2(3): 450-454. DOI: 10.12376/j.issn.2097-0501.2023.03.018
|
Mucopolysaccharidosis is a series of rare diseases where a lack of an enzyme affecting mucopolysaccharides metabolism in the patients′ lysosome induces the intracellular deposition of the mucopolysaccharides, and causes ocular and organ-related complications. Ocular complications included corneal opacity, glaucoma, ametropia, strabismus, and chorioretinopathy. This review summarizes the mechanisms, clinical manifestations, specific ophthalmological examinations, and treatments for offering the ophthalmological knowledge to diagnose and begin treatment earlier.
| [1] |
Lin HY, Chuang CK, Huang YH, et al. Causes of death and clinical characteristics of 34 patients with mucopolysaccharidosis Ⅱ in Taiwan from 1995-2012[J]. Orphanet J Rare Dis, 2016, 11(1): 85. doi: 10.1186/s13023-016-0471-6
|
| [2] |
Mandolfo O, Parker H, Bigger B. Innate immunity in mucopolysaccharide diseases[J]. Int J Mol Sci, 2022, 23(4): 1999. doi: 10.3390/ijms23041999
|
| [3] |
Tomatsu S, Pitz S, Hampel U. Ophthalmological findings in mucopolysaccharidoses[J]. J Clin Med, 2019, 8(9): 1467. doi: 10.3390/jcm8091467
|
| [4] |
Khan SA, Peracha H, Ballhausen D, et al. Epidemiology of mucopolysaccharidoses[J]. Mol Genet Metab, 2017, 121(3): 227-240. doi: 10.1016/j.ymgme.2017.05.016
|
| [5] |
Chen X, Qiu W, Ye J, et al. Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China[J]. J Hum Genet, 2016, 61(4): 345-349. doi: 10.1038/jhg.2015.155
|
| [6] |
Wood T, Bodamer OA, Burin MG, et al. Expert recommendations for the laboratory diagnosis of MPS VI[J]. Mol Genet Metab, 2012, 106(1): 73-82. doi: 10.1016/j.ymgme.2012.02.005
|
| [7] |
Wood TC, Harvey K, Beck M, et al. Diagnosing mucopolysaccharidosis IVA[J]. J Inherit Metab Dis, 2013, 36(2): 293-307. doi: 10.1007/s10545-013-9587-1
|
| [8] |
Ganesh A, Bruwer Z, Al-Thihli K. An update on ocular involvement in mucopolysaccharidoses[J]. Curr Opin Ophthalmol, 2013, 24(5): 379-388. doi: 10.1097/ICU.0b013e3283644ea1
|
| [9] |
Fahnehjelm KT, Ashworth JL, Pitz S, et al. Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis[J]. Acta Ophthalmol, 2012, 90(7): 595-602. doi: 10.1111/j.1755-3768.2011.02280.x
|
| [10] |
Nowaczyk MJ, Clarke JT, Morin JD. Glaucoma as an early complication of Hurler's disease[J]. Arch Dis Child, 1988, 63(9): 1091-1093. doi: 10.1136/adc.63.9.1091
|
| [11] |
Ashworth J, Flaherty M, Pitz S, et al. Assessment and diagnosis of suspected glaucoma in patients with mucopolysaccharidosis[J]. Acta Ophthalmol, 2015, 93(2): e111-e117. doi: 10.1111/aos.12607
|
| [12] |
Traboulsi EI, Maumenee IH. Ophthalmologic findings in mucolipidosis iii (pseudo-Hurler polydystrophy)[J]. Am J Ophthalmol, 1986, 102(5): 592-597. doi: 10.1016/0002-9394(86)90529-5
|
| [13] |
Fahnehjelm KT, Törnquist AL, Malm G, et al. Ocular findings in four children with mucopolysaccharidosis Ⅰ-Hurler (MPS Ⅰ-H) treated early with haematopoietic stem cell transplantation[J]. Acta Ophthalmol Scand, 2006, 84(6): 781-785. doi: 10.1111/j.1600-0420.2006.00743.x
|
| [14] |
Schumacher RG, Brzezinska R, Schulze-Frenking G, et al. Sonographic ocular findings in patients with mucopolysaccharidoses Ⅰ, Ⅱ and Ⅵ[J]. Pediatr Radiol, 2008, 38(5): 543-550. doi: 10.1007/s00247-008-0788-y
|
| [15] |
Summers CG, Ashworth JL. Ocular manifestations as key features for diagnosing mucopolysaccharidoses[J]. Rheumatology(Oxford), 2011, 50 Suppl 5: v34-v40. doi: 10.1093/rheumatology/ker392
|
| [16] |
Tse DY, Lotfi P, Simons DL, et al. Electrophysiological and histological characterization of rod-cone retinal degeneration and microglia activation in a mouse model of mucopolysaccharidosis type iiib[J]. Sci Rep, 2015, 5: 17143. doi: 10.1038/srep17143
|
| [17] |
Mocan MC, Eldem B, Irkec M. In vivo confocal micros-copic findings of two siblings with Maroteaux-Lamy syndrome[J]. Cornea, 2007, 26(1): 90-93. doi: 10.1097/ICO.0b013e31802be383
|
| [18] |
Wasielica-Poslednik J, Butsch C, Lampe C, et al. Comparison of rebound tonometry, perkins applanation tonometry and ocular response analyser in mucopolysaccharidosis patients[J]. PLoS One, 2015, 10(8): e0133586. doi: 10.1371/journal.pone.0133586
|
| [19] |
Zhang JR, Wang JH, Lin HZ, et al. Anterior chamber angles in different types of mucopolysaccharidoses[J]. Am J Ophthalmol, 2020, 212: 175-184. doi: 10.1016/j.ajo.2020.01.007
|
| [20] |
Huang CT, Chu SY, Lee YC. Optical coherence tomography of chorioretinopathy caused by mucopolysaccharidoses[J]. Ophthalmology, 2015, 122(7): 1535-1537. doi: 10.1016/j.ophtha.2015.01.015
|
| [21] |
Kowalski T, Ruddle JB, de Jong G, et al. Expanding the phenotype of mucopolysaccharidosis type Ⅱ retinopathy[J]. Ophthalmic Genet, 2021, 42(5): 631-636. doi: 10.1080/13816810.2021.1938141
|
| [22] |
Ohden KL, Pitz S, Ashworth J, et al. Outcomes of keratoplasty in the mucopolysaccharidoses: an international perspective[J]. Br J Ophthalmol, 2017, 101(7): 909-912 doi: 10.1136/bjophthalmol-2016-308807
|
| [23] |
Veerappan M, Chak G, Shieh C, et al. Atypical presentation of acute angle-closure glaucoma in maroteaux-lamy mucopolysaccharidosis with patent prophylactic laser peripheral iridotomy: a case report[J]. Perm J, 2017, 21: 17-012.
|
| [24] |
Fahnehjelm KT, Törnquist AL, Winiarski J. Ocular axial length and corneal refraction in children with mucopolysaccharidosis (MPS Ⅰ-Hurler)[J]. Acta Ophthalmol, 2012, 90(3): 287-290. doi: 10.1111/j.1755-3768.2010.01934.x
|
| [25] |
Hennig AK, Ogilvie JM, Ohlemiller KK, et al. AAV-mediated intravitreal gene therapy reduces lysosomal storage in the retinal pigmented epithelium and improves retinal function in adult MPS Ⅶ mice[J]. Mol Ther, 2004, 10(1): 106-116. doi: 10.1016/j.ymthe.2004.03.018
|
| [26] |
Wraith JE. Lysosomal disorders[J]. Semin Neonatol, 2002, 7(1): 75-83. doi: 10.1053/siny.2001.0088
|
| [1] | Hypothalamic and Pituitary Disease Group of China Alliance for Rare Diseases. Chinese Experts′ Consensus on the Management of Hypothalamic Obesity Secondary to Sellar Lesions[J]. Journal of Rare Diseases, 2024, 3(4): 479-491. DOI: 10.12376/j.issn.2097-0501.2024.04.011 |
| [2] | Chinese Alliance of Pediatric Rheumatic & Immunologic Diseases, Chinese Pharmacists Association Rare Diseases Medication Working Committee. Consensus of Chinese Experts on the Diagnosis and Treatment of Type Ⅰ Interferonopathy[J]. Journal of Rare Diseases, 2024, 3(4): 471-478. DOI: 10.12376/j.issn.2097-0501.2024.04.010 |
| [3] | Chinese Society of Cardiology, Chinese Medical Association, Editorial Board of Chinese Journal of Cardiology. Chinese Expert Consensus on the Diagnosis and Treatment of Adult Fabry Disease Cardiomyopathy[J]. Journal of Rare Diseases, 2024, 3(3): 335-344. DOI: 10.3760/cma.j.cn112148-20231008-00263 |
| [4] | LIU Cen, ZHAO Zinan, CHEN Di, HU Xin. Advances in the Diagnosis and Treatment of Cushing′s Syndrome[J]. Journal of Rare Diseases, 2024, 3(2): 187-194. DOI: 10.12376/j.issn.2097-0501.2024.02.006 |
| [5] | Chinese Society of Rare Diseases, Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, Bartter Syndrome Consensus Working Group. Expert Consensus for the Diagnosis and Treatment of Bartter Syndrome in China(2023)[J]. Journal of Rare Diseases, 2024, 3(1): 87-101. DOI: 10.12376/j.issn.2097-0501.2024.01.012 |
| [6] | Hemophilia Treatment Center Collaborative Network of China. Chinese Expert Consensus on Pharmacokinetics Guided Treatment for Hemophilia A[J]. Journal of Rare Diseases, 2022, 1(4): 428-434. DOI: 10.12376/j.issn.2097-0501.2022.04.011 |
| [7] | Hemophilia Treatment Center Collaborative Network of China, China Alliance for Rare Diseases, Hemophilia Subcommittee. Expert Consensus on Assessment for Rehabilitation and Treatment of Musculoskeletal Complications of Hemophilia in China[J]. Journal of Rare Diseases, 2022, 1(4): 420-427. DOI: 10.12376/j.issn.2097-0501.2022.04.010 |
| [8] | The Subspecialty Group of Rheumatology,the Society of Pediatrics, Chinese Medical Association, The Pediatric Group of Chinese Medical Doctor Association Committee on Rheumatology and Immunology, The Pediatric Group of Rheumatology and Immunology Professional Committee of Cross Strait Medical and Health Exchange Association, Immunology Professional Committee of Futang Children's Medical Development Research Center. Experts Consensus on Diagnosis and Treatment of Autoinflammatory Diseases[J]. Journal of Rare Diseases, 2022, 1(3): 296-303. DOI: 10.12376/j.issn.2097-0501.2022.03.011 |
| [9] | Multi-disciplinary Team for Rare Diseases, Peking Union Medical College Hospital, China Alliance for Rare Diseases. Expert Consensus on the Application of Multiple criteria Decision Analysis in Comprehensive Clinical Evaluation of Orphan Drugs(2022)[J]. Journal of Rare Diseases, 2022, 1(2): 158-177. DOI: 10.12376/j.issn.2097-0501.2022.02.010 |
| [10] | Rare Diseases Society of Chinese Research Hospital Association, China Alliance for Rare Disease, Beijing Society of Rare Disease Clinical Care and Accessibility, Gitelman Syndrome Consensus Working Group. Expert Consensus for the Diagnosis and Treatment of Gitelman Syndrome in China (2021)[J]. Journal of Rare Diseases, 2022, 1(1): 56-67. DOI: 10.12376/j.issn.2097-0501.2022.01.010 |
| 1. |
沃奇军，赵瑜，杨伟，段婷，寿佳沣，杨云开，祁小龙，张大宏. 腹腔镜同期双侧肾上腺切除术治疗甲状腺髓样癌致异位ACTH综合征1例报告并文献复习. 中华泌尿外科杂志. 2024(04): 299-305 .
|
Official account
Supported by: Beijing Renhe Information Technology Co., Ltd. 
Author
Peer Review
Editorial Entry
Editor Work
DownLoad: